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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37468

FusionGeneSummary for TBK1_TMBIM4

check button Fusion gene summary
Fusion gene informationFusion gene name: TBK1_TMBIM4
Fusion gene ID: 37468
HgeneTgene
Gene symbol

TBK1

TMBIM4

Gene ID

29110

51643

Gene nameTANK binding kinase 1transmembrane BAX inhibitor motif containing 4
SynonymsFTDALS4|IIAE8|NAK|T2KCGI-119|GAAP|LFG4|S1R|ZPRO
Cytomap

12q14.2

12q14.3

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase TBK1NF-kB-activating kinaseNF-kappa-B-activating kinaseprotein lifeguard 4Golgi anti-apoptotic proteinZ-proteintransmembrane BAX inhibitor motif-containing protein 4
Modification date2018052320180519
UniProtAcc

Q9UHD2

Q9HC24

Ensembl transtripts involved in fusion geneENST00000331710, ENST00000539652, 
ENST00000556010, ENST00000358230, 
ENST00000544599, ENST00000286424, 
ENST00000398033, ENST00000542724, 
ENST00000535812, 
Fusion gene scores* DoF score6 X 3 X 4=724 X 2 X 2=16
# samples 54
** MAII scorelog2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TBK1 [Title/Abstract] AND TMBIM4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTBK1

GO:0006468

protein phosphorylation

27103069

HgeneTBK1

GO:0016239

positive regulation of macroautophagy

27103069

HgeneTBK1

GO:0018105

peptidyl-serine phosphorylation

25803835|27103069

HgeneTBK1

GO:0018107

peptidyl-threonine phosphorylation

27103069

HgeneTBK1

GO:0032727

positive regulation of interferon-alpha production

16127453

HgeneTBK1

GO:0032728

positive regulation of interferon-beta production

16127453

HgeneTBK1

GO:0045944

positive regulation of transcription by RNA polymerase II

16127453

TgeneTMBIM4

GO:0050848

regulation of calcium-mediated signaling

19553469


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-DX-AB35-01ATBK1chr12

64849737

+TMBIM4chr12

66547228

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000331710ENST00000539652TBK1chr12

64849737

+TMBIM4chr12

66547228

-
In-frameENST00000331710ENST00000556010TBK1chr12

64849737

+TMBIM4chr12

66547228

-
Frame-shiftENST00000331710ENST00000358230TBK1chr12

64849737

+TMBIM4chr12

66547228

-
5CDS-5UTRENST00000331710ENST00000544599TBK1chr12

64849737

+TMBIM4chr12

66547228

-
5CDS-5UTRENST00000331710ENST00000286424TBK1chr12

64849737

+TMBIM4chr12

66547228

-
5CDS-5UTRENST00000331710ENST00000398033TBK1chr12

64849737

+TMBIM4chr12

66547228

-
5CDS-intronENST00000331710ENST00000542724TBK1chr12

64849737

+TMBIM4chr12

66547228

-
5CDS-intronENST00000331710ENST00000535812TBK1chr12

64849737

+TMBIM4chr12

66547228

-

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FusionProtFeatures for TBK1_TMBIM4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBK1

Q9UHD2

TMBIM4

Q9HC24

Serine/threonine kinase that plays an essential role inregulating inflammatory responses to foreign agents. Followingactivation of toll-like receptors by viral or bacterialcomponents, associates with TRAF3 and TANK and phosphorylatesinterferon regulatory factors (IRFs) IRF3 and IRF7 as well asDDX3X. This activity allows subsequent homodimerization andnuclear translocation of the IRFs leading to transcriptionalactivation of pro-inflammatory and antiviral genes including IFNAand IFNB. In order to establish such an antiviral state, TBK1 formseveral different complexes whose composition depends on the typeof cell and cellular stimuli. Thus, several scaffolding moleculesincluding FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can berecruited to the TBK1-containing-complexes. Under particularconditions, functions as a NF-kappa-B effector by phosphorylatingNF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocateNF-Kappa-B to the nucleus. Restricts bacterial proliferation byphosphorylating the autophagy receptor OPTN/Optineurin on 'Ser-177', thus enhancing LC3 binding affinity and antibacterialautophagy (PubMed:21617041). Phosphorylates SMCR8 component of theC9orf72-SMCR8 complex, promoting autophagosome maturation(PubMed:27103069). Phosphorylates and activates AKT1(PubMed:21464307). Seems to play a role in energy balanceregulation by sustaining a state of chronic, low-gradeinflammation in obesity, wich leads to a negative impact oninsulin sensitivity. Attenuates retroviral budding byphosphorylating the endosomal sorting complex required fortransport-I (ESCRT-I) subunit VPS37C (PubMed:21270402).Phosphorylates Borna disease virus (BDV) P protein(PubMed:16155125). Plays an essential role in the TLR3- and IFN-dependent control of herpes virus HSV-1 and HSV-2 infections inthe central nervous system (PubMed:22851595).{ECO:0000269|PubMed:10581243, ECO:0000269|PubMed:10783893,ECO:0000269|PubMed:11839743, ECO:0000269|PubMed:12692549,ECO:0000269|PubMed:12702806, ECO:0000269|PubMed:14703513,ECO:0000269|PubMed:15367631, ECO:0000269|PubMed:15485837,ECO:0000269|PubMed:15489227, ECO:0000269|PubMed:16155125,ECO:0000269|PubMed:18583960, ECO:0000269|PubMed:21138416,ECO:0000269|PubMed:21270402, ECO:0000269|PubMed:21464307,ECO:0000269|PubMed:21617041, ECO:0000269|PubMed:21931631,ECO:0000269|PubMed:22851595, ECO:0000269|PubMed:23453971,ECO:0000269|PubMed:23453972, ECO:0000269|PubMed:23746807,ECO:0000269|PubMed:26611359, ECO:0000269|PubMed:27103069}. Anti-apoptotic protein which can inhibit apoptosisinduced by intrinsic and extrinsic apoptotic stimuli. Can modulateboth capacitative Ca2+ entry and inositol 1,4,5-trisphosphate(IP3)-mediated Ca2+ release. {ECO:0000269|PubMed:17319741,ECO:0000269|PubMed:19553469}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBK1chr12:64849737chr12:66547228ENST00000331710+22115_2329730Nucleotide bindingATP
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07209_22932239IntramembraneHelical
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07119_12032239Topological domainLumenal
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07142_15132239Topological domainCytoplasmic
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07173_17532239Topological domainLumenal
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07197_20832239Topological domainCytoplasmic
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07230_23832239Topological domainCytoplasmic
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-0760_6832239Topological domainLumenal
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-0790_9732239Topological domainCytoplasmic
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07121_14132239TransmembraneHelical
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07152_17232239TransmembraneHelical
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-07176_19632239TransmembraneHelical
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-0739_5932239TransmembraneHelical
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-0769_8932239TransmembraneHelical
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-0798_11832239TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBK1chr12:64849737chr12:66547228ENST00000331710+221407_65729730Coiled coil.
HgeneTBK1chr12:64849737chr12:66547228ENST00000331710+221658_71329730Coiled coilOntology_term=ECO:0000255
HgeneTBK1chr12:64849737chr12:66547228ENST00000331710+221309_38529730DomainNote=Ubiquitin-like
HgeneTBK1chr12:64849737chr12:66547228ENST00000331710+2219_31029730DomainProtein kinase
TgeneTMBIM4chr12:64849737chr12:66547228ENST00000358230-071_3832239Topological domainCytoplasmic


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FusionGeneSequence for TBK1_TMBIM4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000539652_chr12_66547228_-_29aa

>In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000556010_chr12_66547228_-_29aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000539652_chr12_66547228_-_87nt

>In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000556010_chr12_66547228_-_87nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000539652_chr12_66547228_-_1279nt
AATCCCAATTACTGTGTTCGCTGCTCAGGGCTCCTCATTCCCCTTTAGAGTAAAGGGCGAGGGCAACAGTGGACGGGGTGTCTCCAGACA
TCCCCCTCATTACCGTGGCCGCGGAAGCCGACTCGGCAGTTGCCGCCGCGGCTGTGGTGACTACCAGACGGGCCATAGGCGTGCGCACGC
GCACCCGCACCGGCGCGCCGGCCGTCGGTCACGTGGCCTCCGGCCAGGGCTTGCGAAGCCGGAAGTGTCCTGAGTCTCGAGGAGGCCGCG
GGAGCCCGCCGGCGGTGGCGCGGCGGAGACCCGGCTGGTATAACAAGAGGATTGCCTGATCCAGCCAAGATGCAGAGCACTTCTAATCAT
CTGTGGCTTTTATCTGATATTTTAGGCCAAGGAGCTACTGCAAATGTCTTTCGTGGAAGACATAAGCCTTTCTGAGAAAAGTCTACAGCA
TTCTTTCTCTGCAGGTTCTCTTAACTACAGTGACTTCAACAGTTTTTTTATACTTTGAGTCTGTACGGACATTTGTACATGAGAGTCCTG
CCTTAATTTTGCTGTTTGCCCTCGGATCTCTGGGTTTGATTTTTGCGTTGATTTTAAACAGACATAAGTATCCCCTTAACCTGTACCTAC
TTTTTGGATTTACGCTGTTGGAAGCTCTGACTGTGGCAGTTGTTGTTACTTTCTATGATGTATATATTATTCTGCAAGCTTTCATACTGA
CTACTACAGTATTTTTTGGTTTGACTGTGTATACTCTACAATCTAAGAAGGATTTCAGCAAATTTGGAGCAGGCCGCTGCAGGAGCCCTT
CTTTTCTGTGGATTCATCATCTATGACACACACTCACTGATGCATAAACTGTCACCTGAAGAGTACGTATTAGCTGCCATCAGCCTCTAC
TTGGATATCATCAATCTATTCCTGCACCTGTTACGGTTTCTGGAAGCAGTTAATAAAAAGTAAAACATGGCTAAAAGCTTACGGAGTAAG
TGGAAAAGAAAGATGCGTGCTGAAAAGAGAAAAAAGAATGCCCCAAAGGAGGCCAGCAGGCTTAAAAGTATTCTCAAACTAGACGGTGAT
GTTTTAATGAAAGATGTTCAAGAGATAGCAACTGTGGTGGTACCCAAACCCAAACATTGCCAAGAGAAAATGCAATGTGAGGTAAAAGAT
GAAAAAGATGACATGAAAATGGAGACTGATATTAAGAGAAACAAAAAGACTCTTCTAGACCAGCATGGACAGTACCCAATATGGATGAAC

>In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000556010_chr12_66547228_-_1267nt
AATCCCAATTACTGTGTTCGCTGCTCAGGGCTCCTCATTCCCCTTTAGAGTAAAGGGCGAGGGCAACAGTGGACGGGGTGTCTCCAGACA
TCCCCCTCATTACCGTGGCCGCGGAAGCCGACTCGGCAGTTGCCGCCGCGGCTGTGGTGACTACCAGACGGGCCATAGGCGTGCGCACGC
GCACCCGCACCGGCGCGCCGGCCGTCGGTCACGTGGCCTCCGGCCAGGGCTTGCGAAGCCGGAAGTGTCCTGAGTCTCGAGGAGGCCGCG
GGAGCCCGCCGGCGGTGGCGCGGCGGAGACCCGGCTGGTATAACAAGAGGATTGCCTGATCCAGCCAAGATGCAGAGCACTTCTAATCAT
CTGTGGCTTTTATCTGATATTTTAGGCCAAGGAGCTACTGCAAATGTCTTTCGTGGAAGACATAAGCCTTTCTGAGAAAAGTCTACAGCA
TTCTTTCTCTGCAGGTTCTCTTAACTACAGTGACTTCAACAGTTTTTTTATACTTTGAGTCTGTACGGACATTTGTACATGAGAGTCCTG
CCTTAATTTTGCTGTTTGCCCTCGGATCTCTGGGTTTGATTTTTGCGTTGATTTTAAACAGACATAAGTATCCCCTTAACCTGTACCTAC
TTTTTGGATTTACGCTGTTGGAAGCTCTGACTGTGGCAGTTGTTGTTACTTTCTATGATGTATATATTATTCTGCAAGCTTTCATACTGA
CTACTACAGTATTTTTTGGTTTGACTGTGTATACTCTACAATCTAAGAAGGATTTCAGCAAATTTGGAGCAGGCCGCTGCAGGAGCCCTT
CTTTTCTGTGGATTCATCATCTATGACACACACTCACTGATGCATAAACTGTCACCTGAAGAGTACGTATTAGCTGCCATCAGCCTCTAC
TTGGATATCATCAATCTATTCCTGCACCTGTTACGGTTTCTGGAAGCAGTTAATAAAAAGTAAAACATGGCTAAAAGCTTACGGAGTAAG
TGGAAAAGAAAGATGCGTGCTGAAAAGAGAAAAAAGAATGCCCCAAAGGAGGCCAGCAGGCTTAAAAGTATTCTCAAACTAGACGGTGAT
GTTTTAATGAAAGATGTTCAAGAGATAGCAACTGTGGTGGTACCCAAACCCAAACATTGCCAAGAGAAAATGCAATGTGAGGTAAAAGAT
GAAAAAGATGACATGAAAATGGAGACTGATATTAAGAGAAACAAAAAGACTCTTCTAGACCAGCATGGACAGTACCCAATATGGATGAAC


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FusionGenePPI for TBK1_TMBIM4


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
TBK1CDC37, HSP90AA2P, TANK, TBKBP1, TRAF2, NFKB1, IKBKG, BTRC, REL, CUL1, ANKRD28, PPP6R2, PPP6R1, NFKB2, PPP6C, RELA, SKP1, NCK1, CYLD, IRF3, TRAF3, TNFAIP3, RB1CC1, TNF, TMEM173, CALCOCO2, TLR4, TLR9, TLR3, NCOA2, AZI2, OPTN, ATG9A, CDC42BPG, FMR1, FXR2, MIB1, MAVS, AGO2, HMMR, IKBKE, LETM1, MTPAP, RBBP5, TXLNA, TXLNG, TICAM1, MIB2, NEDD4, NLRP4, DTX4, TNIP1, TAX1BP1, TBK1, MBP, XIAP, PELI1, HERC2, IRF7, TRAIP, TRIM27, SRC, NFKBIA, HSP90AA1, APP, RNF11, YWHAE, TOMM70A, TRAF3IP2, DDX58, SYK, PROS1, STX11, LATS2, EXOC2, EGFR, CCDC8, MAP1LC3B, AKT1, SOCS3, SQSTM1, STX12, STX3, STX19, APBA3, BBOX1, TRIM10, IFIT3, USP2, NTRK1, MED4, SCLT1, SSX2IP, OFD1, CEP152, CNTROB, CEP128, CEP135, CEP44, CEP63, NINL, ODF2, SASS6, STIL, XPO1, ESR1, MCM2, TRIM26, TRAF1, DYRK2, TRIM14, CTNNBL1, PBXIP1, SMURF1, TRAF6, TRIM9, GSK3B, RNF128, PLK1, HIF1AN, TXLNB, DFNB31, HERPUD1, TRAF5, TRIM23TMBIM4SLC27A4, RPN2, CCDC47, DDOST, PPIB, MTX1, PRPSAP1, DFFA, COX4I1, VKORC1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneTBK1chr12:64849737chr12:66547228ENST00000331710+221621_62929730AZI2%2C TANK and TBKBP1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TBK1_TMBIM4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TBK1_TMBIM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBK1C4225325FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 42UNIPROT
TgeneTMBIM4C0029927Ovarian Cysts1CTD_human